RESUMO
A review of the British Society for Histocompatibility and Immunogenetics (BSHI) "Guideline for selection and HLA matching of related, adult unrelated donors and umbilical cord units for haematopoietic progenitor cell transplantation" was undertaken by a BSHI appointed writing committee. Literature searches were performed, and the data extracted were presented as recommendations according to the GRADE nomenclature.
Assuntos
Antígenos HLA/imunologia , Transplante de Células-Tronco Hematopoéticas/métodos , Teste de Histocompatibilidade/métodos , Imunogenética/métodos , Adulto , Seleção do Doador , Sangue Fetal , Antígenos HLA/genética , Humanos , Doadores de TecidosRESUMO
The new HLA-A*02:06:01:02 allele differs from HLA-A*02:06:01 by a CâG substitution in Intron 1.
Assuntos
Genes MHC da Classe II , Antígeno HLA-A2/isolamento & purificação , Alelos , Sequência de Bases , Antígeno HLA-A2/genética , Teste de Histocompatibilidade , Humanos , Dados de Sequência Molecular , Reação em Cadeia da Polimerase em Tempo Real , Alinhamento de Sequência , Análise de Sequência de DNA , Homologia de Sequência do Ácido NucleicoRESUMO
The genomic sequence of the novel HLA-B*44:220 allele identified in a British Caucasoid male.
Assuntos
Alelos , Substituição de Aminoácidos , Antígeno HLA-B44/genética , Polimorfismo de Nucleotídeo Único , Sequência de Bases , Códon , Éxons , Expressão Gênica , Antígeno HLA-B44/imunologia , Teste de Histocompatibilidade , Humanos , Masculino , Dados de Sequência Molecular , Alinhamento de Sequência , Reino Unido , População BrancaRESUMO
Genomic sequencing of HLA-A*30:02:01:03, an intronic variant, and HLA-C*08:113, an exonic variant.
Assuntos
Alelos , Antígenos HLA-A/genética , Antígenos HLA-C/genética , Mutação , Sistema de Registros , Substituição de Aminoácidos , Sequência de Bases , Transplante de Medula Óssea , Éxons , Genótipo , Antígenos HLA-A/imunologia , Antígenos HLA-C/imunologia , Teste de Histocompatibilidade , Humanos , Íntrons , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Alinhamento de Sequência , Análise de Sequência de DNA , África do Sul , Doadores de TecidosRESUMO
Genomic sequence of HLA-A*02:95 identified in an Anthony Nolan volunteer donor.
Assuntos
Alelos , Éxons/genética , Antígenos HLA-A/genética , Sequência de Bases , Clonagem Molecular , Genoma , Teste de Histocompatibilidade , Humanos , Dados de Sequência Molecular , Mutação/genética , Análise de Sequência de DNA , Reino UnidoRESUMO
The new HLA-A*74:23 allele differs from the closest allele A*74:01 by a nucleotide change in exon 3 at codon 97.
Assuntos
Alelos , Antígenos HLA-A/genética , Costa Rica , Humanos , MasculinoRESUMO
The new DRB1*11:129 allele differs from the closest matching allele HLA-DRB1*11:06:01 by one nucleotide substitution in exon 3 at position 623 (GâA).
Assuntos
Alelos , Cadeias HLA-DRB1/genética , Mutação Puntual , Povo Asiático/genética , Sequência de Bases , Éxons , Cadeias HLA-DRB1/imunologia , Teste de Histocompatibilidade , Humanos , Dados de Sequência Molecular , Reação em Cadeia da PolimeraseRESUMO
Identification of the antigen presenting molecule HLA-DRB1*03:49 by group-specific sequence-based typing.
Assuntos
Alelos , Cadeias HLA-DRB1/genética , Teste de Histocompatibilidade , Sequência de Bases , Europa (Continente) , Éxons/genética , Humanos , Dados de Sequência Molecular , Alinhamento de SequênciaRESUMO
HLA-DRB1*03:85 differs from HLA-DRB1*03:06 by two nucleotides, position 257 A>T and position 258T>C, resulting in Valine at codon 57.
Assuntos
Alelos , Cadeias HLA-DRB1/genética , Sequência de Bases , Éxons/genética , Humanos , Dados de Sequência Molecular , Alinhamento de SequênciaRESUMO
Estimation of human leukocyte antigen (HLA) haplotype frequencies from unrelated stem cell donor registries presents a challenge because of large sample sizes and heterogeneity of HLA typing data. For the 14th International HLA and Immunogenetics Workshop, five bioinformatics groups initiated the 'Registry Diversity Component' aiming to cross-validate and improve current haplotype estimation tools. Five datasets were derived from different donor registries and then used as input for five different computer programs for haplotype frequency estimation. Because of issues related to heterogeneity and complexity of HLA typing data identified in the initial phase, the same five implementations, and two new ones, were used on simulated datasets in a controlled experiment where the correct results were known a priori. These datasets contained various fractions of missing HLA-DR modeled after European haplotype frequencies. We measured the contribution of sampling fluctuation and estimation error to the deviation of the frequencies from their true values, finding equivalent contributions of each for the chosen samples. Because of patient-directed activities, selective prospective typing strategies and the variety and evolution of typing technology, some donors have more complete and better HLA data. In this setting, we show that restricting estimation to fully typed individuals introduces biases that could be overcome by including all donors in frequency estimation. Our study underlines the importance of critical review and validation of tools in registry-related activity and provides a sustainable framework for validating the computational tools used. Accurate frequencies are essential for match prediction to improve registry operations and to help more patients identify suitably matched donors.
Assuntos
Antígenos HLA/imunologia , Haplótipos/imunologia , Teste de Histocompatibilidade/normas , Modelos Estatísticos , Sistema de Registros , Software/normas , Transplante de Células-Tronco , Frequência do Gene , Antígenos HLA/genética , Teste de Histocompatibilidade/métodos , Teste de Histocompatibilidade/estatística & dados numéricos , Humanos , Doadores não Relacionados/estatística & dados numéricosRESUMO
Knowledge of an individual's human leukocyte antigen (HLA) genotype is essential for modern medical genetics, and is crucial for hematopoietic stem cell and solid-organ transplantation. However, the high levels of polymorphism known for the HLA genes make it difficult to generate an HLA genotype that unambiguously identifies the alleles that are present at a given HLA locus in an individual. For the last 20 years, the histocompatibility and immunogenetics community has recorded this HLA genotyping ambiguity using allele codes developed by the National Marrow Donor Program (NMDP). While these allele codes may have been effective for recording an HLA genotyping result when initially developed, their use today results in increased ambiguity in an HLA genotype, and they are no longer suitable in the era of rapid allele discovery and ultra-high allele polymorphism. Here, we present a text string format capable of fully representing HLA genotyping results. This Genotype List (GL) String format is an extension of a proposed standard for reporting killer-cell immunoglobulin-like receptor (KIR) genotype data that can be applied to any genetic data that use a standard nomenclature for identifying variants. The GL String format uses a hierarchical set of operators to describe the relationships between alleles, lists of possible alleles, phased alleles, genotypes, lists of possible genotypes, and multilocus unphased genotypes, without losing typing information or increasing typing ambiguity. When used in concert with appropriate tools to create, exchange, and parse these strings, we anticipate that GL Strings will replace NMDP allele codes for reporting HLA genotypes.
Assuntos
Algoritmos , Técnicas de Genotipagem/normas , Antígenos HLA/imunologia , Transplante de Células-Tronco Hematopoéticas , Teste de Histocompatibilidade/normas , Transplante de Órgãos , Receptores KIR/imunologia , Alelos , Frequência do Gene , Genótipo , Técnicas de Genotipagem/estatística & dados numéricos , Antígenos HLA/genética , Teste de Histocompatibilidade/estatística & dados numéricos , Humanos , Polimorfismo Genético , Receptores KIR/genética , Análise de Sequência de DNA , Terminologia como Assunto , Doadores não RelacionadosRESUMO
We have updated the catalogue of common and well-documented (CWD) human leukocyte antigen (HLA) alleles to reflect current understanding of the prevalence of specific allele sequences. The original CWD catalogue designated 721 alleles at the HLA-A, -B, -C, -DRB1, -DRB3/4/5, -DQA1, -DQB1, and -DPB1 loci in IMGT (IMmunoGeneTics)/HLA Database release 2.15.0 as being CWD. The updated CWD catalogue designates 1122 alleles at the HLA-A, -B, -C, -DRB1, -DRB3/4/5, -DQA1, -DQB1, -DPA1 and -DPB1 loci as being CWD, and represents 14.3% of the HLA alleles in IMGT/HLA Database release 3.9.0. In particular, we identified 415 of these alleles as being 'common' (having known frequencies) and 707 as being 'well-documented' on the basis of ~140,000 sequence-based typing observations and available HLA haplotype data. Using these allele prevalence data, we have also assigned CWD status to specific G and P designations. We identified 147/151 G groups and 290/415 P groups as being CWD. The CWD catalogue will be updated on a regular basis moving forward, and will incorporate changes to the IMGT/HLA Database as well as empirical data from the histocompatibility and immunogenetics community. This version 2.0.0 of the CWD catalogue is available online at cwd.immunogenomics.org, and will be integrated into the Allele Frequencies Net Database, the IMGT/HLA Database and National Marrow Donor Program's bioinformatics web pages.